sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Denominator Metabolite

Structure of 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*
Metabolite Accession: GCST90200080
Name: 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*
Hmdb Id: HMDB0009783
Super Pathway: NA
Sub Pathway: NA
Inchikey: PDLAMJKMOKWLAJ

Associated Genomic Regions

Region: rs102275

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.208
Position:
61557803
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
-9.618
Reference Allele:
T
-log10(P):
-48.757
MAF:
0.346
Beta (Num):
-0.106
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.102
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, ceramide biosynthesis.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.8[1], 9[2], 10[3], 11[4], 12[5]

Ratio Explanation:

The ratio may reflect a shift in membrane lipid raft composition, contrasting sphingolipid and GPI-anchor synthesis, potentially modulated by FADS-regulated fatty acid availability.5[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

FADS variants likely alter fatty acid pools, impacting the balance of membrane sphingolipids and GPI-anchors.13[1] This can modify lipid raft function, influencing inflammatory pathways and lipoprotein metabolism, contributing to phenotypes like hypercholesterolemia, asthma, and phlebitis.14[2], 15[3], 16[4], 17[5]

Phenotype Driver:

Gene-centric:FADS1/FADS2

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data